GTR Home > Tests > Cystic Fibrosis


Test order codeHelp: Cystic Fibrosis Mutation

Test name


Cystic Fibrosis

Purpose of the test


This is a clinical test intended for Help: Diagnosis, Mutation Confirmation, Screening



1 condition tested. Click Indication tab for more information.


Molecular Genetics
TTargeted variant analysis
Allele-specific primer extension (ASPE)
  • Luminex xMap

Summary of what is tested

1 genes and variants. Click Methodology tab for more information.


Clinical validity


Not provided

Clinical utility


Not provided

How to order


Call Regional Pathology Services at 800-334-0459 to set up a new account.
Order URL Help:

Suggested reading

Practice guidelines

  • DailyMed Drug Label, 2012
    DailyMed Drug Label, KALYDECO, 2012
  • HGS Australasia, 2014
    Human Genetics Society of Australasia position statement: population-based carrier screening for cystic fibrosis.
  • CPIC, 2014
    Clinical Pharmacogenetics Implementation Consortium (CPIC) Guidelines for Ivacaftor Therapy in the Context of CFTR Genotype
  • NSGC, 2014
    Molecular testing for cystic fibrosis carrier status practice guidelines: recommendations of the National Society of Genetic Counselors.
  • CDC, 2012
    Good laboratory practices for biochemical genetic testing and newborn screening for inherited metabolic disorders.
  • ACOG, 2011
    ACOG Committee Opinion No. 486: Update on carrier screening for cystic fibrosis.
  • ECFS, 2010
    Guidelines on the early management of infants diagnosed with cystic fibrosis following newborn screening.
  • CPGPT/CF FPT Committees, 2010
    Cystic fibrosis pulmonary guidelines: pulmonary complications: hemoptysis and pneumothorax.
  • ACMG ACT Sheets, 2010
    ACMG ACT Sheets and Confirmatory Algorithms
  • CFF, 2009
    Cystic Fibrosis Foundation evidence-based guidelines for management of infants with cystic fibrosis.
  • CFF, 2009
    Cystic Fibrosis Foundation practice guidelines for the management of infants with cystic fibrosis transmembrane conductance regulator-related metabolic syndrome during the first two years of life and beyond.
  • ACOG, 2009
    ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent.
  • ACMG, 2008
    Carrier screening in individuals of Ashkenazi Jewish descent
  • NSGC, 2005
    Cystic fibrosis prenatal screening in genetic counseling practice: recommendations of the National Society of Genetic Counselors.
  • ACMG, 2004
    Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel
  • ACMG Lab QA, 2002
    Standards and guidelines for CFTR mutation testing.
  • ACMG/ACOG, 2001
    Laboratory standards and guidelines for population-based cystic fibrosis carrier screening.

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